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Elucidation of pathological threshold in mitochondrial disease patient-derived iPSC model.

Research Project

Project/Area Number 16K19675
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionFujita Health University

Principal Investigator

Yahata Naoki  藤田医科大学, 医学部, 助教 (60450607)

Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2018: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
KeywordsiPS細胞 / ミトコンドリア / mtDNA / ミトコンドリアDNA / 発生・分化 / 創薬
Outline of Final Research Achievements

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is one of the most common mitochondrial diseases caused by point mutations in mitochondrial DNA (mtDNA). We generated iPSCs from a MELAS patient having a G13513A mutation in mtDNA. To elucidate the relationship between heteroplasmy level and cellular phenotype, the level of mutant mtDNA in MELAS-iPSC was changed using originally established mtDNA-targeted Platinum TALENs, which were transported into mitochondria and preferentially cleaved mutant mtDNA. Furthermore, we tried to analyze these iPSC-derived myocytes and neurons.

Academic Significance and Societal Importance of the Research Achievements

本研究では、ゲノム編集技術の一つであるTALENを用いて、mtDNA変異を有するMELAS患者由来iPS細胞における変異mtDNA比率の改変に成功した。この技術は、変異mtDNA比率と細胞表現型の関係についての詳細な解析を可能にした。さらに、本研究で作製したiPS細胞モデルを用いることで、今後ミトコンドリア病の治療法の開発に応用できると考える。

Report

(3 results)
  • 2018 Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (6 results)

All 2018 2017 2016

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (3 results) (of which Int'l Joint Research: 1 results) Patent(Industrial Property Rights) (2 results)

  • [Journal Article] TALEN-mediated shift of mitochondrial DNA heteroplasmy in MELAS-iPSCs with m.13513G>A mutation.2017

    • Author(s)
      Yahata N., Matsumoto Y., Omi M., Yamamoto N., Hata R.
    • Journal Title

      Sci Rep.

      Volume: 7 Issue: 1 Pages: 15557-15557

    • DOI

      10.1038/s41598-017-15871-y

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] TALENを用いたMELAS患者由来iPS細胞における変異ミトコンドリアDNA比率の改変2018

    • Author(s)
      八幡直樹、松本祐嗣、尾身 実、山本直樹、秦 龍二
    • Organizer
      第17回日本再生医療学会総会
    • Related Report
      2017 Research-status Report
  • [Presentation] Generation of induced pluripotent stem cells from a MELAS patient with m.13513G>A mutation.2016

    • Author(s)
      Naoki Yahata and Ryuji Hata
    • Organizer
      The 13th Conference of Asian Society for Mitochondrial Research and Medicine and The 16th Conference of Japanese Society of Mitochondrial Research and Medicine
    • Place of Presentation
      TKP Garden City Shinagawa (Tokyo, Japan)
    • Year and Date
      2016-10-30
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] MELAS患者由来iPS細胞の樹立2016

    • Author(s)
      八幡 直樹、秦 龍二
    • Organizer
      日本解剖学会 第76回中部支部学術集会
    • Place of Presentation
      信州大学医学部附属病院 (長野)
    • Year and Date
      2016-10-08
    • Related Report
      2016 Research-status Report
  • [Patent(Industrial Property Rights)] ミトコンドリア病誘発変異型mtDNA率の異なるiPS細胞群2017

    • Inventor(s)
      秦龍二、八幡直樹、尾身実
    • Industrial Property Rights Holder
      秦龍二、八幡直樹、尾身実
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2017-199578
    • Filing Date
      2017
    • Related Report
      2017 Research-status Report
  • [Patent(Industrial Property Rights)] ミトコンドリア病誘発変異型mtDNA率の異なるiPS細胞群2017

    • Inventor(s)
      秦龍二、八幡直樹、尾身実
    • Industrial Property Rights Holder
      秦龍二、八幡直樹、尾身実
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2017-034673
    • Filing Date
      2017-02-27
    • Related Report
      2016 Research-status Report

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Published: 2016-04-21   Modified: 2023-12-25  

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